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A case of mild phenotype Alport syndrome caused by COL4A3 mutations

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Abstract

In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the α5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV collagen α3 chain. These two gene mutations represented a new pattern of mutation and was suggested the association with an atypical α5 chain expression and mild phenotype.

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Authors and Affiliations

  1. Department of Nephrology, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan

    Masafumi Kamijo, Mineaki Kitamura, Kumiko Muta, Tadashi Uramatsu, Yoko Obata & Tomoya Nishino

  2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Kandai Nozu, Hiroshi Kaito & Kazumoto Iijima

  3. Department of Respiratory Medicine, Nagasaki University Hospital, Nagasaki, Japan

    Hiroshi Mukae

Authors
  1. Masafumi Kamijo
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  2. Mineaki Kitamura
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  3. Kumiko Muta
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  4. Tadashi Uramatsu
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  5. Yoko Obata
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  6. Kandai Nozu
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  7. Hiroshi Kaito
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  8. Kazumoto Iijima
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  9. Hiroshi Mukae
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  10. Tomoya Nishino
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Corresponding author

Correspondence to Mineaki Kitamura.

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Informed consent was obtained from all individual participants included in the study.

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Kamijo, M., Kitamura, M., Muta, K. et al. A case of mild phenotype Alport syndrome caused by COL4A3 mutations. CEN Case Rep 6, 189–193 (2017). https://doi.org/10.1007/s13730-017-0273-2

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  • DOI: https://doi.org/10.1007/s13730-017-0273-2

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